Searching for that elusive elixir of life

As scientists world over are busy trying to find the elusive elixir of life that can defy ageing and make you disease-free in golden years, gene-testing - a technology that scans DNA instructions you inherited from your parents to spot genetic disorders - is now gaining ground among Indians, especially the young.

According to diagnostics firms and health providers, gene-testing methods can not only find out what diseases you are prone to but also provide customised solutions to nip them in the bud and herald a new health era for you.

The approach, they stress, needs a fresh look at a time when scientists world over <g data-gr-id="70">are</g> struggling to find new antibiotics to tackle resistant viruses and bacteria and the onset of new life-threatening diseases.

“Knowledge of the genetic make-up (favourable vs. unfavourable) may give the opportunity to take a pro-active step to avoid unfavourable factors and prompt the person to visit the doctor at initial symptoms,” says Dr Amit Verma, consultant (molecular oncology and cancer genetics) at Max Hospitals, New Delhi.

He is witnessing a surge in young, healthy individuals coming to his clinic for gene-testing.

The reason to go for such testing is simple: It can identify increased risks of health problems, allowing you to choose personalised treatments or assess responses to treatments.

“The concept of gene testing is quite new to the entire medical field. However, scientifically, it is an established concept. The broader strategy would be to create awareness among the doctors first, followed by awareness amongst the people,” adds Dr Amol Raut, CEO of the Pune-based gene diagnostics firm GeneSupport.

Unfortunately, genetically associated factors cannot be reversed but the findings from the test will certainly minimise the possibility of acquiring bad health.

“The genes related to all conditions such as cancer, metabolic diseases, congenital diseases, lifestyle or other diseases are scanned, which helps in identifying missing pieces of information or even inappropriate information in genes,” explains Dr Raut, also the chief consultant (R&D) of GeneOmbio Technologies that provides various gene diagnostic services.

Individuals are usually born with such altered information and scanning the genes helps in understanding the tendency, chances or risk towards a particular undesired body condition.

“Further, such techniques can also be used to identify the stage of a disease as it happens in the case of cancer progression determination. This information can be used to change further or modify therapy, diet, exercise and even lifestyle in certain cases to provide personalised information,” Dr Raut stresses.

According to Dr Kshitiz Murdia, an IVF expert at the Indira Infertility Clinic in New Delhi, genetic testing will be the future “as we would be able to eliminate certain inherited or genetic disorders from families who have those.”

“In the last four-five years, genetics has come a long way through. With the new generation sequencing possible in the human genome, the whole genome can be sequenced and can even identify single gene disorders and some 600-700 other disorders,” he said.

He too is seeing an increase in the number of people who want to go in for genetic testing.

“At present, we are able to identify aneuploidies (presence of an abnormal number of chromosomes in a cell), thalassemia (inherited blood disorder) and other disorders which are a common cause of abortions or disability causing childhood disorders,” Dr Murdia elaborates.

Four years back when Hollywood actor Angelina Jolie decided to have both her breasts removed as she carried a gene mutation that put her at a high risk of developing breast cancer, people across the world were left shocked.

But her decision had improved awareness of reconstructive breast surgery options among women, revealed a recent Swedish study published in the journal Cancer.

Genetic alterations or mutations are permanent features of the genetic make-up. “It cannot be reversed or fixed, but attempts at using gene therapy in few disorders like cystic fibrosis have proven to be beneficial in modifying the disease to some extent,” Dr Verma said.

Gene sequencing can also be used to screen newborn babies and commercial egg and sperm donors to find if they are free from any genetic disorder.

“Most importantly, embryos can be tested for rare genetic or hereditary disorders by next-generation sequencing platform (whole genome scanning), enabling transfer of healthy embryos back to the mother and delivering a normal child,” emphasises Dr Murdia.

Pricing is also a key factor for such advanced test methods. The cost of gene tests depends upon the number of biomarkers being analysed.

“This increases the price bandwidth for tests that may range from an average of Rs.1,000 to Rs.10,000. The price range from lowest to highest may cover one to three conditions to several conditions, respectively,” Dr Raut said.

The next-generation sequencing platform is the future that can be used to scan the entire human genome and detect all known biomarkers.

“In such cases, the average cost may run into a few lakhs (of rupees) including associated consultation from the doctors. However, such comprehensive analysis is the future of diagnostics,” Dr Raut says.